Exon diseases gene contains trinucleotide repeat expansion. Medical search. Frequent questions

HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor, psychiatric, and cognitive dysfunction. (jci.org)
Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein 1 . (nature.com)
Huntington's Disease (HD) is an autosomal dominant, progressive neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations, which usually manifests at around 40 to 50 years of age. (upmc.com)
Huntington's disease (HD) is an autosomal dominant neurodegenerative condition associated with abnormal movements, cognitive deterioration, and psychiatric symptoms. (bmj.com)
Huntington's disease (HD) is an autosomal dominant inherited disorder belonging to the group of systemic brain atrophies. (hindawi.com)
Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. (frontiersin.org)
Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)
Huntington`s Disease (HD) is an autosomal dominant neurodegenerative disease affecting 4-to-7 per 100,000 individuals. (edubirdie.com)

point stop mutations), hemophilia ( A , B ), phenylketonuria -PKU (point mutation), Duchenne muscular dystrophy (DMD) , adenosine deaminase (ADA) deficiency causing severe combined immune deficiency (SCID), Tay-Sachs disease (hexosaminidase A deficiency). (dorak.info)
We were interested to test if wild type huntingtin protected against the toxicity of polyglutamine expansion mutations. (bmj.com)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
Mutations in the C9orf72 gene are responsible for 30-40% of familial ALS cases in the United States and Europe. (medscape.com)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (cdc.gov)
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (cdc.gov)
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. (cdc.gov)
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. (cdc.gov)
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. (cdc.gov)
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2. (cdc.gov)
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. (cdc.gov)
Smaller genetic variants (such as nonsense and frameshift mutations that result in a premature stop codon) can result in disease by producing proteins that lack key functional domains, or they may result in nonsense-mediated mRNA decay, so that no protein is produced from the mutated allele. (hstalks.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations. (acog.org)
These diseases are all caused by microsatellite mutations, where a microsatellite either has three bases, four bases, five bases, or six bases, and these mutations result in excess numbers of copy of these particular units. (hstalks.com)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
21 allelic mutations have been discovered in the APP gene. (findzebra.com)

The disposition of repetitive elements throughout the genome can consist either in directly adjacent arrays called tandem repeats or in repeats dispersed throughout the genome called interspersed repeats. (wikipedia.org)
Tandem repeats and interspersed repeats are further categorized into subclasses based on the length of the repeated sequence and/or the mode of multiplication. (wikipedia.org)
Tandem repeats are repeated sequences which are directly adjacent to each other in the genome. (wikipedia.org)
Tandem repeats may vary in the number of nucleotides comprising the repeated sequence, as well as the number of times the sequence repeats. (wikipedia.org)
Tandem repeats have a wide variety of biological functions in the genome. (wikipedia.org)
In addition to playing an important role in recombination, tandem repeats also play important structural roles in the genome. (wikipedia.org)
Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
of tandem repeats within their genomes [6, 17]. (scirp.org)

In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
Using an autosomal recessive mode of inheritance, we mapped the trait to chromosome 12q Nedbetaling starter vanligvis seks måneder etter endt utdanning, eller en elev faller under en registreringsstatus på halvtid. (taus.es)
The enzyme is encoded by a gene DNASE I which is located on chromosome 16 at 16p13.3. (geneticeducation.co.in)
For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)

Many repetitive DNA sequences have been linked to human diseases such as Huntington's disease and Friedreich's ataxia. (wikipedia.org)
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (nature.com)
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. (nature.com)
Inactivation of the mouse Huntington's disease gene homolog hdh . (nature.com)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. (nature.com)
Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (nature.com)
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. (nature.com)
Individuals with a CAG repeat size of 30 to 35 do not manifest Huntington's Disease themselves, however, the risk that their offspring will develop HD may be increased, particularly from paternal transmission of the gene. (upmc.com)
Detection of CAG expansions in the HTT gene that lead to Huntington's Disease. (upmc.com)
Rats transgenic for Huntington's disease (tgHD51 CAG rats), surviving up to two years, represent an animal model of HD similar to the late-onset form of human disease. (hindawi.com)
Normal Htt shows a common alpha-helical structure but conformational changes in the form with beta strands are the principal cause of Huntington's disease. (benthamscience.com)
Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
Mutant Huntingtin is the cause of the complex neurological metabolic alteration of Huntington's disease, resulting in both the loss of all the functions of normal Huntingtin and the genesis of abnormal interactions due to the presence of this mutation. (benthamscience.com)
Altered ERK1/2 and PDK1 phosphorylation have been described in Huntington's disease (HD), characterized by the expression of mutant huntingtin (mhtt) and striatal degeneration. (biomedcentral.com)
Huntington's disease (HD) is a neurodegenerative disorder caused by a dominantly heritable expansion of a trinucleotide CAG repeat in the huntingtin (htt) gene [ 15 ], and characterized by the preferential neurodegeneration of striatal medium-sized spiny neurons [ 16 ]. (biomedcentral.com)
Huntington's disease (HD) is a severe neurodegenerative pathology characterized by motor dysfunction, cognitive decline and the presence of mental disorders. (frontiersin.org)
2021. Isoform-specific reduction of the basic Helix-Loop-Helix transcription factor TCF4 levels in Huntington's disease . (cardiff.ac.uk)
Patients with Huntington's disease (HD) develop cognitive deficits, depression and movement abnormalities. (grantome.com)

This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. (fulgentgenetics.com)
Innovations include targeting mRNA alleles for RNAi, use of HD mouse models that express only human huntingtin genes, quantitative measurement of huntingtin allelic mRNA based on SNP heterozygosities, deep sequencing analysis to identify 3 UTR huntingtin mRNA regulation, and zinc finger nuclease strategy to eliminate huntingtin alleles at the genomic level. (grantome.com)
The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. (ox.ac.uk)
We modified BAC vectors carrying the whole FXN genomic DNA locus by inserting the luciferase gene in exon 5a of the FXN gene (pBAC-FXN-Luc) and replacing the six GAA repeats present in the vector with an ∼310 GAA repeat expansion (pBAC-FXN-GAA-Luc). (ox.ac.uk)
These results suggest the potential use of genomic reporter cell models for the study of FRDA and the identification of novel therapies, combining physiologically relevant expression with the advantages of quantitative reporter gene expression. (ox.ac.uk)

Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disease caused by an abnormal polyglutamine expansion within the ataxin-3 protein (ATXN3). (bvsalud.org)
Furthermore, we believe that these results could signal the potential for the accumulation of exon 51 skipped transcript and dystrophin protein in muscle tissue with repeated doses of PGN-EDO51 in people living with DMD. (tipranks.com)
With increasing repeat number, the protein changes conformation and becomes increasingly prone to aggregation 11 , suggesting important functional correlations between repeat length and pathology. (nature.com)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
The causative mutation is a (CAG) n trinucleotide repeat expansion of more than 35 repeats, which is translated into an abnormally long polyglutamine tract in the huntingtin protein. (bmj.com)
2 The polyglutamine expansion mutation causes disease by conferring a novel deleterious function on the mutant protein and the severity correlates with increasing CAG repeat number and expression levels in transgenic mice and in cell culture models. (bmj.com)
A hallmark of many of these diseases, including HD, spinobulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), and spinocerebellar ataxias (SCA) types 1, 2, 3, 6, and 7, is the development of intracellular protein aggregates (inclusions) in the vulnerable neurones. (bmj.com)
Lately, in 1993, gene IT15 (interesting transcript 15), which codes unstable protein huntingtin (htt) comprising variable number of CAG repeats, was identified [ 5 ]. (hindawi.com)
The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
At the molecular level, HD occurs due to an increase in the number of CAG repeats in the first exon of the gene encoding the huntingtin protein. (frontiersin.org)
The huntingtin gene encodes a protein of 350 kD;the disease causing mutation is an expansion of an amino-terminal polyglutamine repeat of more than 36 successive glutamines. (grantome.com)
We will examine how gene silencing can reduce production of the mutant huntingtin protein that causes HD, thereby preventing dysfunction and death in neurons in animal models of HD and in HD neurons in culture. (grantome.com)
The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
The aim of this lecture is to provide selected examples of the links between different types of genetic and epigenetic alterations, and the diversity of ways in which they can impact protein function and lead to human genetic disease. (hstalks.com)
The activation of this pathway modulates gene transcription and activates multiple downstream Kinasesphosphatases branches, affecting key cellular processes such as protein synthesis, autophagy, apoptosis, and resistance to oxidative stress [ 9 ]. (scientificarchives.com)
The MSH3 gene encodes a DNA mismatch repair protein important in certain cancer types and in certain neurodegenerative diseases. (cancertools.org)
It has 17 fully functional exons encode the DNase I. The molecular weight of the DNase I protein is 38KDa having optimum pH of 6.5 to 8. (geneticeducation.co.in)
This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
In Huntington`s Disease, mutated protein aggregates within the neuronal cells of the caudate and putamen of the basal ganglia causing neuronal cell death. (edubirdie.com)
2014). Although this study aims to find therapeutic benefit through nonallele-specific silencing of both the mutant and wild type huntingtin gene which codes for the huntingtin protein, it has been noted that the effects of nonallelle-specific silencing of the mutant htt still remains unknown. (edubirdie.com)

Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. (jci.org)
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. (nih.gov)
These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
These mice express the human htt cDNA which encodes glutamine and the first 171 amino acids bearing 82 CAG repeats (Schilling et al. (edubirdie.com)

In the 1990s, more research was conducted to elucidate the evolutionary dynamics of minisatellite and microsatellite repeats because of their importance in DNA-based forensics and molecular ecology. (wikipedia.org)
When the repeating sequence is only 2-10 nucleotides long, the repeat is referred to as a short tandem repeat (STR) or microsatellite. (wikipedia.org)

Sequence variants and/or copy number variants (deletions/duplications) within the ACTR3C gene will be detected with >99% sensitivity. (fulgentgenetics.com)
single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. (fulgentgenetics.com)
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)

For minisatellites and microsatellites, the number of times the sequence repeats at a single locus can range from twice to hundreds of times. (wikipedia.org)
The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (cdc.gov)

It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
Methylation of mammalian DNA and histone residues are known to regulate transcription, and the discovery of demethylases that remove methylation in DNA and histones provide a basis for the understanding of dynamic regulation of mammalian gene expression. (cmbn.no)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression . (cardiff.ac.uk)
2019. Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy . (cardiff.ac.uk)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
We now know those structures are very relevant to many critical biological processes like gene regulation, expression of telomerase and telomere maintenance, understanding of growth/oncogenes like C-myc, understanding of organismic development, comprehension of certain enigmatic diseases like ALS and possible new cancer treatments. (anti-agingfirewalls.com)
Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. (ox.ac.uk)
We demonstrate that the presence of expanded GAA repeats recapitulates the epigenetic modifications and repression of gene expression seen in FRDA. (ox.ac.uk)
We applied the GAA-expanded reporter model to the screening of a library of novel small molecules and identified one molecule which up-regulates FXN expression in FRDA patient primary cells and restores normal histone acetylation around the GAA repeats. (ox.ac.uk)
R-loop, a three-stranded RNA/DNA structure, has been linked to induced genome in- stability and regulated gene expression. (escholarship.org)
Numerous cellular proteins detect DNA damage and induce senescence , a permanent change of state characterized by morphological and gene expression changes. (massgenomics.org)
2009). Previous studies of utilising RNAi induced by short hairpin RNAs (shRNAs) to reduce expression of mutant htt have shown that there is a possibility of improving abnormalities relating to HD disease in a mouse model (S.Q Harper et al, 2005). (edubirdie.com)

Huntington Disease Collaborative Research Group. (nature.com)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
The purpose of these mice was to be able to study and understand repeat expansion which leads to Huntington`s Disease. (edubirdie.com)

OBJECTIVES Recent data suggest that wild type huntingtin can protect against apoptosis in the testis of mice expressing full length huntingtin transgenes with expanded CAG repeats. (bmj.com)
METHODS We cotransfected neuronal (SK-N-SH, human neuroblastoma) and non-neuronal (COS-7, monkey kidney) cell lines with HD exon 1 (containing either 21 or 72 CAG repeats) construct DNA and either full length wild type huntingtin or pFLAG (control vector). (bmj.com)
RESULTS Full length wild type huntingtin significantly reduced cell death resulting from the mutant HD exon 1 fragments containing 72 CAG repeats in both cell lines. (bmj.com)
Wild type huntingtin did not significantly modulate cell death caused by transfection of HD exon 1 fragments containing 21 CAG repeats in either cell line. (bmj.com)
CONCLUSIONS Our results suggest that wild type huntingtin can significantly reduce the cellular toxicity of mutant HD exon 1 fragments in both neuronal and non-neuronal cell lines. (bmj.com)

Repeated sequences (also known as repetitive elements, repeating units or repeats) are short or long patterns of nucleic acids (DNA or RNA) that occur in multiple copies throughout the genome. (wikipedia.org)
Some of these repeated sequences are necessary for maintaining important genome structures such as telomeres or centromeres. (wikipedia.org)
Repeated sequences are categorized into different classes depending on features such as structure, length, location, origin, and mode of multiplication. (wikipedia.org)
While some repeated DNA sequences are important for cellular functioning and genome maintenance, other repetitive sequences can be harmful. (wikipedia.org)
Overall, repeated sequences are an important area of focus because they can provide insight into human diseases and genome evolution. (wikipedia.org)
McClintock's work set the stage for the discovery of repeated sequences because transposition, centromere structure, and telomere structure are all possible through repetitive elements, yet this was not fully understood at the time. (wikipedia.org)
Many repeat sequences are likely to be non-functional, decaying remnants of Transposable elements, these have been labelled "junk" or "selfish" DNA. (wikipedia.org)
The human exome includes all coding nuclear DNA sequences, approximately 180,000 exons that are transcribed into mature RNA. (nih.gov)
As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)

The concludedall trinucleotide tendency was on average quite low in introns confirming the hypothesis that the forces maintaining structural features of DNA act prevalently at level of mono or dinucleotides. (centralparkcarriagesofficial.org)

Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)

The age of onset of the disease varies inversely with the number of CAG repeats. (jci.org)
Individuals with juvenile onset usually have over 55 repeats, and they usually inherit the gene from their father. (jci.org)
In all cases, age at onset correlates inversely with repeat number. (bmj.com)
The disease is always fatal with an average survival of 10-15 years after the onset of the first symptoms. (hindawi.com)
Mutant form of huntingtin (mhtt) comprises up to 40 repeats and individuals with 36-39 CAG repeats are in risk of developing adult (late-onset) form of HD. (hindawi.com)
ALS, also known as Lou Gehrig disease, is the most common neurodegenerative disease of adult onset involving the motor neuron system. (medscape.com)
The average age of onset is around 40 years old (Vonsattel et al, 1985) but could be earlier depending on the number of repeats. (edubirdie.com)

These disorders include motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which may involve motor neurons in the brain, spinal cord, and periphery, ultimately weakening the muscle. (medscape.com)
One of the problems arising from the misfolded Huntingtin is the increase in oxidative stress, which is common in many neurological diseases such as Alzheimer's, Parkinson's, Amyotrophic Lateral Sclerosis and Creutzfeldt-Jakob disease. (benthamscience.com)

A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. (cdc.gov)

35) in the first exon of the huntingtin ( HTT , IT15 ) gene 1 . (nature.com)

Together, the discovery of two proteins that can reverse 6meA modifications from mRNA draws attention to the potential regulatory functions of reversible RNA methylation and the role of 6meA in disease. (cmbn.no)

Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

When the repeating sequence is 10-60 nucleotides long, the repeat is referred to as a minisatellite. (wikipedia.org)
The presence of repeated sequence DNA makes it easier for areas of homology to align, thereby controlling when and where recombination occurs. (wikipedia.org)

Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
An overview of various disease-causing variants in CACNA1A , including several of the most common recurrent variants. (epilepsygenetics.net)
Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
Comprising only 1%-2% of the human genome, the exome nonetheless contains the majority of currently recognized disease-causing variants. (nih.gov)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)

Clinically, the disease is characterized by complex and variable symptoms that include movement disorders, psychiatric problems and cognitive decline 2 . (nature.com)

Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
from the mutation of a single gene. (scirp.org)

The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)

These repeats fold into highly organized G quadruplex structures which protect the ends of chromosomal DNA from degradation. (wikipedia.org)
This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)

The Alzheimer-Dementia Panel examines 16 genes associated with an increased risk of developing neurodegenerative conditions: Alzheimer's disease and genetic disorders that cause dementia. (tesiscolorado.com)
Patients with a personal and/or family history of Alzheimer's disease and dementia. (tesiscolorado.com)
We also use functional genomics and proteomic techniques to study disease mechanisms in common, polygenic disorders including schizophrenia, Alzheimer's disease and Fuchs' endothelial corneal dystrophy (FECD). (cardiff.ac.uk)

Such molecular defect is based on the expansion of this triplet that codes amino acid glutamine. (hindawi.com)
Zuo, L. Oxidative stress in neurodegenerative diseases: from molecular mechanisms to clinical applications. (benthamscience.com)
Given that there are thousands of rare genetic disorders, it is of course not possible to provide a detailed comprehensive overview of the molecular mechanisms of all types of human genetic disease, but I hope that the selected examples will provide some insights into this topic. (hstalks.com)

2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)

A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
For different DNases, separate DNASE genes are located on different chromosomes. (geneticeducation.co.in)

Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. (nih.gov)
Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)

Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)

Genome-wide association studies have identified a firm link between the human FTO gene, obesity and type II diabetes. (cmbn.no)

The focus of my talk is going to be on the genetics of these diseases, and I'll talk very little about the functional biology of these conditions. (hstalks.com)

CMBN shall take on a leading role in elucidating the role of DNA repair and genome maintenance mechanisms in preventing neurological disease and brain ageing. (cmbn.no)
Although the brain areas affected by the disease are well established, the mechanisms by which neural dysfunction and neurodegeneration occurs are not well defined yet. (biomedcentral.com)
This proposal satisfies NINDS goals in translational science: translation of gene silencing therapeutics, early-state therapy development, and identifying mechanisms that underlie nervous system function. (grantome.com)
This proposal addresses treatment of HD through study of basic mechanisms of silencing the gene that causes the disease. (grantome.com)
I'm going to give a lecture on the mechanisms of human genetic disease. (hstalks.com)

Andrew, S.E., Goldberg, Y.P. & Hayden, M.R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. (nature.com)

Because HD is an inherited disease, we expected that the mutant allele will differ from wild-type by at least a single nucleotide polymorphism, thereby offering a target for gene silencing by RNAi. (grantome.com)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)

Our results show that Msh2 is required for somatic instability of the CAG repeat. (nature.com)
Figure 3: Levels of CAG repeat instability in various tissues from Msh2 -/- , Msh2 +/- and Msh2 +/+ mice. (nature.com)

In unaffected individuals, there are 10-34 CAG repeats. (jci.org)
Normal individuals have between 6 and 35 copies of this repeat. (upmc.com)
Affected individuals have an expanded repeat region, usually 36 to 121 copies of the repeat. (upmc.com)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)

However, comparing the HD76 neurons with the previously described low-repeat HD models, we have demonstrated that the severity of calcium signaling alterations does not depend on the length of the polyglutamine tract of the mutant huntingtin. (frontiersin.org)

Spinocerebellar ataxia type 3 (SCA3) is a genetic degeneration disease of the nervous system with ataxia as the main clinical manifestation, and the most frequent subtype of SCA3 is known to be caused by CAG repeat expansions of more than 55 units in ATXN3. (bvsalud.org)
HD is a member of a family of neurodegenerative diseases caused by CAG/polyglutamine expansions, which include spinobulbar muscular atrophy (SBMA), spinocerebellar ataxias (SCA) types 1, 2, 3, 6, and 7, and dentatorubral-pallidoluysian atrophy. (bmj.com)
The reason why I am distinguishing episodic and spinocerebellar ataxias is due to the fact that the disease presentation in these conditions is entirely different. (epilepsygenetics.net)
Episodic ataxias lead to brief, recurrent, non-progressive episodes of lack of balance, whereas spinocerebellar ataxias are chronic, progressive diseases that are often associated with imaging findings ( cerebellar atrophy ). (epilepsygenetics.net)

Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)

Most neuromuscular diseases (NMDs) are incurable. (medscape.com)
We extend our heartfelt appreciation to the participants in our Phase 1 HNV trial for their role in supporting our mission to develop transformative therapies for people living with DMD and other devastating neuromuscular diseases. (tipranks.com)

Table 1 The note of acute phase genes and proteins by human primary adipocytes. (centralparkcarriagesofficial.org)

Nevertheless, occasionally some repeats may be exapted for other functions. (wikipedia.org)

50 repeat units and cause Fuchs endothelial corneal dystrophy. (nih.gov)
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. (nih.gov)

The penetrance of the CAG expansion is not complete, therefore showing variability in the severity of disease symptoms. (upmc.com)

Knock in mice models have more precise portrayal of the disease`s genotype as scientists are able to replace specific gene regions of the HD gene with human copies. (edubirdie.com)

Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)

Anatomy3

Organisms2

Diseases21

Chemicals and Drugs17

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Psychiatry and Psychology2

Phenomena and Processes37

Information Science3

Health Care2

Autosomal dominant9

Mutations21

Tandem repeats8

Chromosome6

Huntington's Disease19

Genomic6

Protein22

Encodes4

Microsatellite2

Deletions3

Locus3

Expression18

Huntington3

Wild type huntingtin5

Sequences9

Introns1

Microsatellites1

Onset7

Amyotrophic lateral s2

Assay1

IT151

MRNA1

Candidate genes3

Sequence2

Variants5

Psychiatric1

Single gene4

Neurological diseases1

Chromosomal2

Alzheimer's3

Molecular3

20012

Chromosomes2

Loci2

Duplications1

Genome-wide1

Functional1

Mechanisms5

Polyglutamine expansion1

Allele2

Mitochondrial2

Instability2

Individuals5

Mutant huntingtin1

Spinocerebellar4

Genetics1

Neuromuscular diseases2

Proteins1

Occasionally1

Corneal Dystrophy2

Severity1

Copies1

Transcription1